Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians.
Ondine's curse
PHOX2B gene
congenital central hypoventilation syndrome
genetics
hypoventilation
mutation
neonate
Journal
Neonatal network : NN
ISSN: 1539-2880
Titre abrégé: Neonatal Netw
Pays: United States
ID NLM: 8503921
Informations de publication
Date de publication:
01 Jul 2019
01 Jul 2019
Historique:
entrez:
31
8
2019
pubmed:
31
8
2019
medline:
6
2
2020
Statut:
ppublish
Résumé
Congenital central hypoventilation syndrome (CCHS) is a rare and sporadic neurocristopathy characterized by alveolar hypoventilation and autonomic nervous system dysfunction. CCHS manifests quickly after birth, initially as respiratory distress. Mortality risk is estimated at 38 percent, with a median age of death of three months of age. A timely and accurate diagnosis is critical. Genetic testing for
Identifiants
pubmed: 31470390
pii: 38/4/217
doi: 10.1891/0730-0832.38.4.217
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
217-225Informations de copyright
© Copyright 2019 Springer Publishing Company, LLC.